Variant report

Variant	nsv1001939
Chromosome Location	chr2:128295320-128363608
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:772)
CpG islands
(count:856)
Chromatin interactive
region (count:50)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:772 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:128349048-128349416	HepG2	liver:	n/a	n/a
2	ATF1	chr2:128358801-128358803	K562	blood:	n/a	n/a
3	ATF1	chr2:128300470-128300913	K562	blood:	n/a	n/a
4	ATF2	chr2:128321060-128321609	GM12878	blood:	n/a	n/a
5	ATF2	chr2:128320914-128321660	GM12878	blood:	n/a	n/a
6	ATF2	chr2:128348914-128349416	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr2:128349033-128349329	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr2:128343035-128343230	K562	blood:	n/a	n/a
9	BATF	chr2:128321136-128321858	GM12878	blood:	n/a	n/a
10	BATF	chr2:128321260-128321654	GM12878	blood:	n/a	n/a
11	BCL11A	chr2:128321108-128321562	GM12878	blood:	n/a	n/a
12	BCL11A	chr2:128321116-128321593	GM12878	blood:	n/a	n/a
13	BCLAF1	chr2:128321005-128321709	GM12878	blood:	n/a	n/a
14	BCLAF1	chr2:128349073-128349341	GM12878	blood:	n/a	n/a
15	BHLHE40	chr2:128321075-128321680	GM12878	blood:	n/a	n/a
16	BHLHE40	chr2:128295358-128295629	K562	blood:	n/a	n/a
17	BHLHE40	chr2:128300682-128300922	K562	blood:	n/a	n/a
18	BHLHE40	chr2:128349045-128349370	K562	blood:	n/a	n/a
19	BRCA1	chr2:128318445-128318564	HepG2	liver:	n/a	n/a
20	CBX3	chr2:128300436-128301011	K562	blood:	n/a	n/a
21	CBX3	chr2:128348982-128349342	K562	blood:	n/a	n/a
22	CCNT2	chr2:128300633-128300900	K562	blood:	n/a	n/a
23	CEBPB	chr2:128301640-128301840	K562	blood:	n/a	chr2:128301707-128301718
24	CEBPB	chr2:128317875-128318064	HepG2	liver:	n/a	n/a
25	CEBPB	chr2:128303178-128303466	IMR90	lung:	n/a	chr2:128303314-128303325
26	CEBPB	chr2:128303227-128303474	A549	lung:	n/a	chr2:128303314-128303325
27	CEBPB	chr2:128303142-128303494	HepG2	liver:	n/a	chr2:128303314-128303325
28	CEBPB	chr2:128349086-128349381	K562	blood:	n/a	n/a
29	CEBPB	chr2:128321130-128321745	GM12878	blood:	n/a	n/a
30	CEBPB	chr2:128349000-128349373	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr2:128330615-128330620	HepG2	liver:	n/a	n/a
32	CEBPB	chr2:128349142-128349337	HepG2	liver:	n/a	n/a
33	CEBPB	chr2:128349084-128349423	HepG2	liver:	n/a	n/a
34	CEBPB	chr2:128303168-128303426	K562	blood:	n/a	chr2:128303314-128303325
35	CEBPB	chr2:128301648-128301815	HepG2	liver:	n/a	chr2:128301707-128301718
36	CEBPD	chr2:128300558-128300959	K562	blood:	n/a	n/a
37	CEBPD	chr2:128349131-128349314	HepG2	liver:	n/a	n/a
38	CEBPD	chr2:128300528-128301002	K562	blood:	n/a	n/a
39	CHD2	chr2:128348982-128349275	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr2:128349251-128349257	Hela-S3	cervix:	n/a	n/a
41	CHD2	chr2:128321841-128321914	GM12878	blood:	n/a	n/a
42	CHD2	chr2:128349065-128349344	K562	blood:	n/a	n/a
43	CHD2	chr2:128349131-128349289	HepG2	liver:	n/a	n/a
44	CHD2	chr2:128321075-128321640	GM12878	blood:	n/a	n/a
45	CREB1	chr2:128321010-128321683	GM12878	blood:	n/a	n/a
46	CREB1	chr2:128348975-128349378	A549	lung:	n/a	n/a
47	CTCF	chr2:128348916-128349455	H1-hESC	embryonic stem cell:	n/a	chr2:128349252-128349265 chr2:128349212-128349228 chr2:128349211-128349229 chr2:128349234-128349242
48	CTCF	chr2:128349065-128349362	HUVEC	blood vessel:	n/a	chr2:128349252-128349265 chr2:128349212-128349228 chr2:128349211-128349229 chr2:128349234-128349242
49	CTCF	chr2:128321094-128321244	GM19239	blood:	n/a	n/a
50	CTCF	chr2:128321080-128321230	GM12865	blood:	n/a	n/a

(count:856 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:128331478-128331528	HL-60	blood:	n/a
2	chr2:128347901-128347951	HIPEpiC	eye:	n/a
3	chr2:128331478-128331528	HL-60	blood:	n/a
4	chr2:128347901-128347951	HIPEpiC	eye:	n/a
5	chr2:128334565-128334615	PFSK-1	brain:	n/a
6	chr2:128354089-128354139	NHBE	bronchial:	n/a
7	chr2:128334565-128334615	MCF-7	breast:	n/a
8	chr2:128298086-128298136	SAEC	small airway:	n/a
9	chr2:128347901-128347951	K562	blood:	n/a
10	chr2:128348899-128348949	GM12892	blood:	n/a
11	chr2:128350748-128350798	H1-hESC	embryonic stem cell:	embryo
12	chr2:128331593-128331643	AG09309	skin:	n/a
13	chr2:128350442-128350492	HAEpiC	amniotic membrane:	n/a
14	chr2:128348899-128348949	HCPEpiC	choroid plexus:	n/a
15	chr2:128350442-128350492	ProgFib	skin:	n/a
16	chr2:128347901-128347951	HAEpiC	amniotic membrane:	n/a
17	chr2:128350442-128350492	MCF-7	breast:	n/a
18	chr2:128348899-128348949	ovcar-3	ovarian:	n/a
19	chr2:128354089-128354139	AG04450	lung:	fetal
20	chr2:128331593-128331643	Caco-2	colon:	n/a
21	chr2:128351542-128351592	H1-hESC	embryonic stem cell:	embryo
22	chr2:128351542-128351592	BJ	skin:	n/a
23	chr2:128350442-128350492	HIPEpiC	eye:	n/a
24	chr2:128348899-128348949	U87	brain:	n/a
25	chr2:128334565-128334615	HCF	heart:	n/a
26	chr2:128348899-128348949	NHBE	bronchial:	n/a
27	chr2:128331593-128331643	Hepatocyte	liver:	n/a
28	chr2:128331518-128331568	AG09319	gingival:	n/a
29	chr2:128351542-128351592	SK-N-SH_RA	brain:	n/a
30	chr2:128298086-128298136	BE2_C	brain:	n/a
31	chr2:128350442-128350492	K562	blood:	n/a
32	chr2:128331518-128331568	ProgFib	skin:	n/a
33	chr2:128350572-128350622	HRE	kidney:	n/a
34	chr2:128348899-128348949	PrEC	prostate:	n/a
35	chr2:128331593-128331643	PFSK-1	brain:	n/a
36	chr2:128331593-128331643	PrEC	prostate:	n/a
37	chr2:128317170-128317220	HRE	kidney:	n/a
38	chr2:128350306-128350356	Jurkat	blood:	n/a
39	chr2:128347901-128347951	NT2-D1	testis:	n/a
40	chr2:128298086-128298136	AG09319	gingival:	n/a
41	chr2:128350748-128350798	K562	blood:	n/a
42	chr2:128298086-128298136	MCF-7	breast:	n/a
43	chr2:128331478-128331528	HCPEpiC	choroid plexus:	n/a
44	chr2:128350306-128350356	GM06990	blood:	n/a
45	chr2:128354089-128354139	NHDF-neo	bronchial:	n/a
46	chr2:128350306-128350356	AG09319	gingival:	n/a
47	chr2:128347901-128347951	NB4	blood:	n/a
48	chr2:128351542-128351592	Hela-S3	cervix:	n/a
49	chr2:128350748-128350798	BJ	skin:	n/a
50	chr2:128347901-128347951	SAEC	small airway:	n/a

(count:50 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:128336062..128337823-chr2:128338905..128341010,2	K562	blood:
2	chr2:128334136..128336410-chr2:128339156..128341197,2	MCF-7	breast:
3	chr2:128305790..128308359-chr2:128310339..128312423,2	K562	blood:
4	chr2:128348935..128349717-chr2:128397753..128398634,2	MCF-7	breast:
5	chr2:128344046..128345819-chr2:128458490..128460520,2	MCF-7	breast:
6	chr2:128349348..128351904-chr2:128462965..128465382,2	MCF-7	breast:
7	chr2:128349017..128351644-chr2:128387621..128389792,2	MCF-7	breast:
8	chr2:128349507..128351016-chr2:128354758..128356667,2	K562	blood:
9	chr2:128356185..128358427-chr2:128361989..128364155,2	MCF-7	breast:
10	chr2:128283130..128286145-chr2:128334041..128336604,3	K562	blood:
11	chr2:128282354..128284534-chr2:128320626..128323207,2	K562	blood:
12	chr2:128336968..128338613-chr2:128421109..128423481,2	K562	blood:
13	chr2:128288386..128290312-chr2:128297591..128299207,2	MCF-7	breast:
14	chr2:128286477..128289407-chr2:128321219..128322909,3	MCF-7	breast:
15	chr2:128317558..128319788-chr2:128331123..128332955,2	K562	blood:
16	chr2:128340070..128342294-chr2:128344591..128347137,2	K562	blood:
17	chr2:128349107..128352400-chr2:128458285..128460511,3	MCF-7	breast:
18	chr2:128289324..128291170-chr2:128329795..128331725,2	MCF-7	breast:
19	chr2:128334136..128336410-chr2:128339156..128341197,2	MCF-7	breast:
20	chr2:128350066..128351938-chr2:128352163..128353978,2	MCF-7	breast:
21	chr2:128281670..128284609-chr2:128307650..128309640,2	K562	blood:
22	chr2:128282885..128284606-chr2:128326771..128328709,2	MCF-7	breast:
23	chr2:128348778..128349285-chr2:128408202..128409066,2	K562	blood:
24	chr2:128348782..128349711-chr2:128407012..128408114,6	MCF-7	breast:
25	chr2:128348828..128349586-chr2:128398143..128398870,2	MCF-7	breast:
26	chr2:128283723..128286388-chr2:128321696..128326699,5	MCF-7	breast:
27	chr2:128283198..128285584-chr2:128297350..128300267,2	MCF-7	breast:
28	chr2:128350066..128351938-chr2:128352163..128353978,2	MCF-7	breast:
29	chr2:128348754..128349757-chr2:128407019..128407967,16	MCF-7	breast:
30	chr2:128338620..128340523-chr2:128457766..128459740,2	MCF-7	breast:
31	chr2:128294218..128296845-chr2:128297696..128300432,3	K562	blood:
32	chr2:128349069..128349649-chr2:128452945..128453583,3	MCF-7	breast:
33	chr2:128318000..128319961-chr2:128323554..128326504,2	K562	blood:
34	chr2:128348736..128349703-chr2:128407022..128407964,6	K562	blood:
35	chr2:128349507..128351016-chr2:128354758..128356667,2	K562	blood:
36	chr2:128356185..128358427-chr2:128361989..128364155,2	MCF-7	breast:
37	chr2:128305790..128308359-chr2:128310339..128312423,2	K562	blood:
38	chr2:128317558..128319788-chr2:128331123..128332955,2	K562	blood:
39	chr2:128354299..128355897-chr2:128567209..128569843,2	MCF-7	breast:
40	chr2:128283580..128286570-chr2:128296669..128298340,2	K562	blood:
41	chr2:128348763..128349664-chr2:128408092..128409288,3	MCF-7	breast:
42	chr2:128340070..128342294-chr2:128344591..128347137,2	K562	blood:
43	chr2:128330113..128332946-chr2:128335527..128337654,2	K562	blood:
44	chr2:128331003..128333151-chr2:128458279..128460018,2	MCF-7	breast:
45	chr2:128330113..128332946-chr2:128335527..128337654,2	K562	blood:
46	chr2:128318000..128319961-chr2:128323554..128326504,2	K562	blood:
47	chr2:128341026..128343432-chr2:128406208..128408267,2	MCF-7	breast:
48	chr2:128294218..128296845-chr2:128297696..128300432,3	K562	blood:
49	chr2:128345319..128347126-chr2:128457834..128460214,2	K562	blood:
50	chr2:128336062..128337823-chr2:128338905..128341010,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR17-1	chr2:128361166-128363412	l_1945_chr2:128361165-128366776_ovary
2	lnc-IWS1-1	chr2:128317597-128318108	ucscGeneNc_uc010fmc_1
3	lnc-GPR17-2	chr2:128360094-128360482	expReg_chr2_9268_+
4	lnc-IWS1-1	chr2:128317620-128319553	ENSG00000250457
5	lnc-IWS1-1	chr2:128318774-128319641	ucscGeneNc_uc010fmc_1
6	lnc-IWS1-1	chr2:128322263-128322364	ENSG00000250457
7	lnc-LIMS2-3	chr2:128345637-128345930	expReg_chr2_9243_-

No data

Variant related genes	Relation type
MYO7B	TF binding region
MYO7B	CpG island
ENSG00000173349	chromatin interactions
ENSG00000072163	chromatin interactions
ENSG00000144230	chromatin interactions
ENSG00000163166	chromatin interactions
ENSG00000136709	chromatin interactions
DDX10	miRNA target sites
RTN4	miRNA target sites

Extended variants
information (count: 2846 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:2846 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556068281	chr2:128295329-128295330	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs575361895	chr2:128295354-128295355	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs529278974	chr2:128295409-128295410	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs150115365	chr2:128295418-128295419	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs3893897	chr2:128295436-128295437	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs189686404	chr2:128295465-128295466	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs540213475	chr2:128295469-128295470	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs181339772	chr2:128295474-128295475	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs138428440	chr2:128295475-128295476	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs552767683	chr2:128295483-128295484	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs368536560	chr2:128295488-128295489	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs563071800	chr2:128295507-128295508	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs531476437	chr2:128295520-128295521	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs76346259	chr2:128295525-128295526	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs568117335	chr2:128295529-128295530	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs75658438	chr2:128295561-128295562	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs185174837	chr2:128295580-128295581	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs189883236	chr2:128295587-128295588	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs372797677	chr2:128295628-128295629	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142974221	chr2:128295629-128295630	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575821484	chr2:128295633-128295634	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371030859	chr2:128295650-128295651	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535230106	chr2:128295695-128295696	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375106961	chr2:128295700-128295701	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574562498	chr2:128295736-128295737	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540635740	chr2:128295785-128295786	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560267222	chr2:128295806-128295807	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs181768458	chr2:128295818-128295819	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs147064058	chr2:128295838-128295839	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs546172923	chr2:128295850-128295851	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs79010294	chr2:128295872-128295873	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs531946307	chr2:128295885-128295886	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs371572737	chr2:128295910-128295911	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs528306188	chr2:128295917-128295918	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs548773877	chr2:128295922-128295923	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs561782556	chr2:128296003-128296004	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs140117993	chr2:128296012-128296013	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs547397750	chr2:128296053-128296054	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs116794598	chr2:128296061-128296062	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs551178935	chr2:128296066-128296067	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs13029611	chr2:128296103-128296104	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs376082743	chr2:128296159-128296160	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs549815544	chr2:128296186-128296187	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs569565716	chr2:128296249-128296250	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs80031249	chr2:128296254-128296255	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs74779315	chr2:128296257-128296258	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187407325	chr2:128296266-128296267	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201043022	chr2:128296278-128296279	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555106344	chr2:128296303-128296304	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568247685	chr2:128296318-128296319	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:684 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128284600-128321200	Weak transcription	Spleen	Spleen
2	chr2:128285400-128306600	Weak transcription	Right Atrium	heart
3	chr2:128293000-128295600	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr2:128293200-128296000	Active TSS	Duodenum Mucosa	Duodenum
5	chr2:128293800-128295600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:128294000-128296200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
7	chr2:128294000-128299000	Weak transcription	Small Intestine	intestine
8	chr2:128294200-128295800	Flanking Active TSS	Fetal Intestine Large	intestine
9	chr2:128294400-128295800	Enhancers	Colonic Mucosa	Colon
10	chr2:128295200-128295400	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr2:128295400-128295800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
12	chr2:128295600-128295800	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr2:128295600-128295800	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr2:128295600-128296000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:128295800-128296000	Enhancers	Fetal Intestine Large	intestine
16	chr2:128295800-128296000	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr2:128295800-128299000	Weak transcription	Colonic Mucosa	Colon
18	chr2:128295800-128299000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr2:128296000-128298200	Weak transcription	Fetal Intestine Large	intestine
20	chr2:128296000-128298400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr2:128296000-128299600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr2:128296000-128303000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:128296200-128296600	Genic enhancers	Fetal Intestine Small	intestine
24	chr2:128296200-128298800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:128296600-128298200	Strong transcription	Fetal Intestine Small	intestine
26	chr2:128298200-128298600	Enhancers	Fetal Intestine Large	intestine
27	chr2:128298200-128301800	Genic enhancers	Fetal Intestine Small	intestine
28	chr2:128298400-128298600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:128298400-128298600	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr2:128298600-128298800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:128298600-128299200	Genic enhancers	Rectal Mucosa Donor 31	rectum
32	chr2:128298600-128299800	Genic enhancers	Fetal Intestine Large	intestine
33	chr2:128298800-128300200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:128298800-128300800	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr2:128299000-128299600	Enhancers	Small Intestine	intestine
36	chr2:128299000-128300000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:128299000-128300000	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr2:128299000-128300200	Enhancers	Colonic Mucosa	Colon
39	chr2:128299200-128299800	Enhancers	Adipose Nuclei	Adipose
40	chr2:128299200-128300000	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr2:128299200-128300400	Enhancers	Fetal Muscle Trunk	muscle
42	chr2:128299200-128300600	Enhancers	Fetal Muscle Leg	muscle
43	chr2:128299400-128299800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:128299400-128300000	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr2:128299400-128301200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr2:128299600-128300000	Bivalent Enhancer	HepG2	liver
47	chr2:128299600-128300600	Enhancers	Duodenum Mucosa	Duodenum
48	chr2:128299600-128301200	Enhancers	K562	blood
49	chr2:128299800-128300000	Bivalent Enhancer	Fetal Brain Female	brain
50	chr2:128299800-128300000	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine

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